Canonical Allele Identifier: CA2175515129

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487461_48487462delinsTA , CM000677.2:g.48487461_48487462delinsTA	GRCh38
NC_000015.9:g.48779658_48779659delinsTA , CM000677.1:g.48779658_48779659delinsTA	GRCh37
NC_000015.8:g.46566950_46566951delinsTA	NCBI36
NG_008805.2:g.163327_163328delinsTA , LRG_778:g.163327_163328delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-25_3338-24delinsTA	ENSP00000453958.2:n.3338-25_3338-24delinsTA
ENST00000674301.2:c.3338-25_3338-24delinsTA	ENSP00000501333.2:n.3338-25_3338-24delinsTA
ENST00000684448.1:n.2012-25_2012-24delinsTA
ENST00000316623.10:c.3338-25_3338-24delinsTA MANE Select	ENSP00000325527.5:n.3338-25_3338-24delinsTA
ENST00000316623.9:c.3338-25_3338-24delinsTA	ENSP00000325527.5:n.3338-25_3338-24delinsTA
ENST00000537463.6:c.637-12812_637-12811delinsTA	ENSP00000440294.2:n.637-12812_637-12811delinsTA
NM_000138.4:c.3338-25_3338-24delinsTA , LRG_778t1:c.3338-25_3338-24delinsTA	NP_000129.3:n.3338-25_3338-24delinsTA
NM_000138.5:c.3338-25_3338-24delinsTA MANE Select	NP_000129.3:n.3338-25_3338-24delinsTA